HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589764G>C , CM000663.2:g.161589764G>C | GRCh38 |
NC_000001.10:g.161559554G>C , CM000663.1:g.161559554G>C | GRCh37 |
NC_000001.9:g.159826178G>C | NCBI36 |
NG_011982.1:g.13426G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40733C>G | ENSP00000514363.1:n.41-40733C>G | |
ENST00000699403.1:c.61+40604C>G | ENSP00000514364.1:n.61+40604C>G | |
ENST00000465075.6:n.428G>C | ||
ENST00000466542.6:c.336G>C | ENSP00000426627.1:p.Thr112= | |
ENST00000473530.6:n.517G>C | ||
ENST00000473712.6:n.358G>C | ||
ENST00000482226.2:n.315G>C | ||
ENST00000496692.6:n.432G>C | ||
ENST00000543859.5:c.333G>C | ENSP00000444663.2:p.Thr111= | |
ENST00000611236.1:c.333G>C | ENSP00000480953.1:p.Thr111= | |
NR_047648.1:n.435G>C |